Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis
Abstract Background CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological, cognitive and sleep difficulties are not well delineated and are likely associated with biopsychosocial factors. Meth...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-08-01
|
| Series: | Journal of Neurodevelopmental Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s11689-022-09459-5 |
| _version_ | 1798004498123194368 |
|---|---|
| author | Andrea T. Thomas Jane Waite Caitlin A. Williams Jeremy Kirk Chris Oliver Caroline Richards |
| author_facet | Andrea T. Thomas Jane Waite Caitlin A. Williams Jeremy Kirk Chris Oliver Caroline Richards |
| author_sort | Andrea T. Thomas |
| collection | DOAJ |
| description | Abstract Background CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological, cognitive and sleep difficulties are not well delineated and are likely associated with biopsychosocial factors. Methods This meta-analysis investigated the prevalence of clinical features, physical characteristics and conditions, behavioural, psychological, cognitive and sleep characteristics in CHARGE syndrome, and statistically evaluated directional associations between these characteristics. Pooled prevalence estimates were calculated using reliable, prespecified quality weighting criteria, and meta-regression was conducted to identify associations between characteristics. Results Of the 42 eligible studies, data could be extracted for 1675 participants. Prevalence estimates were highest for developmental delay (84%), intellectual disability (64%), aggressive behaviour (48%), self-injurious behaviour (44%) and sleep difficulties (45%). Meta-regression indicated significant associations between intellectual disability and choanal atresia, intellectual disability and inner ear anomalies, sleep difficulties and growth deficiency, and sleep difficulties and gross motor difficulties. Conclusions Our comprehensive review of clinical features, behavioural, psychological, cognitive and physical characteristics, conditions and comorbidities in CHARGE syndrome provides an empirically based foundation to further research and practice. |
| first_indexed | 2024-04-11T12:24:43Z |
| format | Article |
| id | doaj.art-6587504f234e4bd99750a69f71891cae |
| institution | Directory Open Access Journal |
| issn | 1866-1947 1866-1955 |
| language | English |
| last_indexed | 2024-04-11T12:24:43Z |
| publishDate | 2022-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Neurodevelopmental Disorders |
| spelling | doaj.art-6587504f234e4bd99750a69f71891cae2022-12-22T04:23:59ZengBMCJournal of Neurodevelopmental Disorders1866-19471866-19552022-08-0114112010.1186/s11689-022-09459-5Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysisAndrea T. Thomas0Jane Waite1Caitlin A. Williams2Jeremy Kirk3Chris Oliver4Caroline Richards5School of Psychology, University of BirminghamCerebra Network for Neurodevelopmental DisordersCentre for Educational Development, Appraisal and Research (CEDAR), University of WarwickBirmingham Women’s and Children’s NHS Foundation TrustSchool of Psychology, University of BirminghamSchool of Psychology, University of BirminghamAbstract Background CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological, cognitive and sleep difficulties are not well delineated and are likely associated with biopsychosocial factors. Methods This meta-analysis investigated the prevalence of clinical features, physical characteristics and conditions, behavioural, psychological, cognitive and sleep characteristics in CHARGE syndrome, and statistically evaluated directional associations between these characteristics. Pooled prevalence estimates were calculated using reliable, prespecified quality weighting criteria, and meta-regression was conducted to identify associations between characteristics. Results Of the 42 eligible studies, data could be extracted for 1675 participants. Prevalence estimates were highest for developmental delay (84%), intellectual disability (64%), aggressive behaviour (48%), self-injurious behaviour (44%) and sleep difficulties (45%). Meta-regression indicated significant associations between intellectual disability and choanal atresia, intellectual disability and inner ear anomalies, sleep difficulties and growth deficiency, and sleep difficulties and gross motor difficulties. Conclusions Our comprehensive review of clinical features, behavioural, psychological, cognitive and physical characteristics, conditions and comorbidities in CHARGE syndrome provides an empirically based foundation to further research and practice.https://doi.org/10.1186/s11689-022-09459-5CHARGE syndromeSensory impairmentBehavioural phenotypeAggressive behaviourSelf-injurious behaviourSleep |
| spellingShingle | Andrea T. Thomas Jane Waite Caitlin A. Williams Jeremy Kirk Chris Oliver Caroline Richards Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis Journal of Neurodevelopmental Disorders CHARGE syndrome Sensory impairment Behavioural phenotype Aggressive behaviour Self-injurious behaviour Sleep |
| title | Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis |
| title_full | Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis |
| title_fullStr | Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis |
| title_full_unstemmed | Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis |
| title_short | Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis |
| title_sort | phenotypic characteristics and variability in charge syndrome a prisma compliant systematic review and meta analysis |
| topic | CHARGE syndrome Sensory impairment Behavioural phenotype Aggressive behaviour Self-injurious behaviour Sleep |
| url | https://doi.org/10.1186/s11689-022-09459-5 |
| work_keys_str_mv | AT andreatthomas phenotypiccharacteristicsandvariabilityinchargesyndromeaprismacompliantsystematicreviewandmetaanalysis AT janewaite phenotypiccharacteristicsandvariabilityinchargesyndromeaprismacompliantsystematicreviewandmetaanalysis AT caitlinawilliams phenotypiccharacteristicsandvariabilityinchargesyndromeaprismacompliantsystematicreviewandmetaanalysis AT jeremykirk phenotypiccharacteristicsandvariabilityinchargesyndromeaprismacompliantsystematicreviewandmetaanalysis AT chrisoliver phenotypiccharacteristicsandvariabilityinchargesyndromeaprismacompliantsystematicreviewandmetaanalysis AT carolinerichards phenotypiccharacteristicsandvariabilityinchargesyndromeaprismacompliantsystematicreviewandmetaanalysis |